Canonical Allele Identifier: CA1345067387

Gene: VHL

Linked Data

• ClinVar Variation Id: 1024028
• ClinVar RCV Id: RCV001324160
• dbSNP Id: rs1696161869
• gnomAD v4: 3-10142899-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142899G>T , CM000665.2:g.10142899G>T	GRCh38
NC_000003.11:g.10184583G>T , CM000665.1:g.10184583G>T	GRCh37
NC_000003.10:g.10159583G>T	NCBI36
NG_008212.3:g.6265G>T , LRG_322:g.6265G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.477G>T	ENSP00000512434.1:p.Trp159Cys
ENST00000696143.1:c.477G>T	ENSP00000512435.1:p.Trp159Cys
ENST00000696153.1:c.340+712G>T	ENSP00000512444.1:n.340+712G>T
ENST00000256474.3:c.340+712G>T MANE Select	ENSP00000256474.3:n.340+712G>T
ENST00000256474.2:c.340+712G>T	ENSP00000256474.2:n.340+712G>T
ENST00000345392.2:c.340+712G>T	ENSP00000344757.2:n.340+712G>T
ENST00000477538.1:n.354G>T
NM_000551.3:c.340+712G>T , LRG_322t1:c.340+712G>T	NP_000542.1:n.340+712G>T
NM_198156.2:c.340+712G>T	NP_937799.1:n.340+712G>T
XM_011534078.1:c.477G>T	XP_011532380.1:p.Trp159Cys
NM_001354723.1:c.477G>T	NP_001341652.1:p.Trp159Cys
NM_000551.4:c.340+712G>T MANE Select	NP_000542.1:n.340+712G>T
NM_001354723.2:c.477G>T	NP_001341652.1:p.Trp159Cys
NM_198156.3:c.340+712G>T	NP_937799.1:n.340+712G>T